Incidental Mutation 'R2679:Top2b'
ID 250816
Institutional Source Beutler Lab
Gene Symbol Top2b
Ensembl Gene ENSMUSG00000017485
Gene Name topoisomerase (DNA) II beta
Synonyms Top-2, D230016L12Rik
MMRRC Submission 040432-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R2679 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 6038976-6104585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16413947 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 29 (G29D)
Ref Sequence ENSEMBL: ENSMUSP00000123992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629] [ENSMUST00000161693]
AlphaFold Q64511
Predicted Effect possibly damaging
Transcript: ENSMUST00000017629
AA Change: G1090D

PolyPhen 2 Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: G1090D

DomainStartEndE-ValueType
Blast:TOP2c 32 70 7e-10 BLAST
HATPase_c 85 234 1.91e-2 SMART
TOP2c 89 679 N/A SMART
TOP4c 702 1175 2.55e-230 SMART
low complexity region 1201 1215 N/A INTRINSIC
low complexity region 1287 1299 N/A INTRINSIC
low complexity region 1324 1336 N/A INTRINSIC
low complexity region 1360 1382 N/A INTRINSIC
Pfam:DTHCT 1495 1597 4.6e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159302
SMART Domains Protein: ENSMUSP00000123789
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
TOP4c 1 177 4.06e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160501
SMART Domains Protein: ENSMUSP00000124889
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
TOP4c 2 222 3.97e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161693
AA Change: G29D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123992
Gene: ENSMUSG00000017485
AA Change: G29D

DomainStartEndE-ValueType
Pfam:DNA_topoisoIV 1 117 1.2e-12 PFAM
low complexity region 161 173 N/A INTRINSIC
low complexity region 198 210 N/A INTRINSIC
low complexity region 234 256 N/A INTRINSIC
Meta Mutation Damage Score 0.1722 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 97% (67/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice exhibit abnormal innervation. Offspring die shortly after birth due to respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic2 A G 11: 81,042,780 (GRCm39) V171A probably benign Het
Atf7ip A T 6: 136,543,649 (GRCm39) I641L possibly damaging Het
Atrn G A 2: 130,803,595 (GRCm39) probably null Het
Bpifb4 T C 2: 153,790,544 (GRCm39) I145T probably damaging Het
Bub3 A G 7: 131,170,454 (GRCm39) probably null Het
Catsperb T A 12: 101,429,404 (GRCm39) D192E probably damaging Het
Ccdc178 G A 18: 21,944,613 (GRCm39) H849Y possibly damaging Het
Cd101 G T 3: 100,901,079 (GRCm39) Q998K probably benign Het
Cep135 A T 5: 76,772,507 (GRCm39) M631L probably benign Het
Cit T C 5: 116,107,174 (GRCm39) V1102A probably benign Het
Col4a4 G A 1: 82,507,332 (GRCm39) T249M unknown Het
Cpne6 A T 14: 55,753,786 (GRCm39) I415F possibly damaging Het
Cyp4b1 T C 4: 115,485,894 (GRCm39) I348V probably benign Het
Defb28 T C 2: 152,360,202 (GRCm39) S6P possibly damaging Het
Dhrs7b A G 11: 60,743,344 (GRCm39) probably benign Het
Dhx29 T C 13: 113,083,910 (GRCm39) probably null Het
Egfem1 A G 3: 29,724,825 (GRCm39) T476A probably benign Het
Enpp5 A G 17: 44,396,279 (GRCm39) D397G probably damaging Het
Eogt G A 6: 97,097,761 (GRCm39) T279I probably benign Het
Fnip2 G A 3: 79,388,233 (GRCm39) H833Y probably benign Het
Gabrr2 A T 4: 33,071,435 (GRCm39) T92S probably damaging Het
Gm10110 T A 14: 90,134,852 (GRCm39) noncoding transcript Het
Gria2 A G 3: 80,648,260 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,528,326 (GRCm39) T3274N possibly damaging Het
Hnrnpul1 C T 7: 25,426,300 (GRCm39) R517Q probably damaging Het
Hspa1b T C 17: 35,176,279 (GRCm39) K569E probably benign Het
Ighv1-82 T C 12: 115,916,372 (GRCm39) Y46C probably damaging Het
Itga3 A T 11: 94,959,136 (GRCm39) probably benign Het
Lrrc7 T A 3: 157,880,745 (GRCm39) R552* probably null Het
Med13 A G 11: 86,189,403 (GRCm39) S1169P probably benign Het
Muc4 T A 16: 32,577,846 (GRCm39) D2374E unknown Het
Myl9 T A 2: 156,622,426 (GRCm39) L70Q probably damaging Het
Nebl C T 2: 17,429,402 (GRCm39) S243N probably benign Het
Nfat5 A G 8: 108,071,546 (GRCm39) Y314C probably damaging Het
Nr2f6 T A 8: 71,827,380 (GRCm39) D307V probably damaging Het
Nrp2 T C 1: 62,824,237 (GRCm39) S781P probably benign Het
Nub1 C T 5: 24,897,923 (GRCm39) T103I possibly damaging Het
Or4b1d A T 2: 89,968,889 (GRCm39) V198D possibly damaging Het
Or51h5 T A 7: 102,577,238 (GRCm39) Y134* probably null Het
Pex5l A T 3: 33,136,201 (GRCm39) M6K probably benign Het
Pgm3 A C 9: 86,451,374 (GRCm39) C93W probably benign Het
Pkhd1 A G 1: 20,279,406 (GRCm39) S2971P probably benign Het
Pkhd1l1 T C 15: 44,408,782 (GRCm39) L2423P probably damaging Het
Prkce A G 17: 86,483,654 (GRCm39) probably benign Het
Ptbp3 A G 4: 59,494,615 (GRCm39) probably benign Het
Ptgis T A 2: 167,050,113 (GRCm39) M339L probably benign Het
Pxdn T C 12: 30,025,568 (GRCm39) probably benign Het
Rab44 T A 17: 29,363,451 (GRCm39) probably null Het
Ric1 A G 19: 29,581,430 (GRCm39) S1275G probably benign Het
Rnf213 C A 11: 119,350,764 (GRCm39) probably null Het
Rtn4rl1 A T 11: 75,156,552 (GRCm39) E328V probably benign Het
Saraf C T 8: 34,632,428 (GRCm39) T169I probably damaging Het
Sbk2 T A 7: 4,960,119 (GRCm39) probably null Het
Setd1a T G 7: 127,394,896 (GRCm39) probably benign Het
Sit1 A G 4: 43,483,157 (GRCm39) Y73H probably damaging Het
Slc44a4 T C 17: 35,142,399 (GRCm39) probably benign Het
Spopfm1 A T 3: 94,173,217 (GRCm39) Y75F probably damaging Het
Tas2r125 A G 6: 132,887,190 (GRCm39) T193A probably benign Het
Tbc1d9b T A 11: 50,052,528 (GRCm39) probably null Het
Tcf7l1 G T 6: 72,604,403 (GRCm39) H580Q probably benign Het
Tead1 T G 7: 112,456,053 (GRCm39) S115A probably damaging Het
Trpv4 A T 5: 114,773,613 (GRCm39) C250S probably damaging Het
U2surp A C 9: 95,358,285 (GRCm39) I655S possibly damaging Het
Ube2a G A X: 36,138,360 (GRCm39) probably benign Het
Ubl7 A G 9: 57,821,882 (GRCm39) D77G probably damaging Het
Vmn1r91 T C 7: 19,835,983 (GRCm39) C301R probably damaging Het
Vmn2r90 A T 17: 17,933,131 (GRCm39) R230S possibly damaging Het
Wdfy3 T A 5: 102,017,902 (GRCm39) E2560V probably damaging Het
Zfp273 C T 13: 67,973,895 (GRCm39) A341V probably benign Het
Zfp512 C T 5: 31,622,798 (GRCm39) A33V probably benign Het
Other mutations in Top2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Top2b APN 14 16,422,692 (GRCm38) missense probably benign 0.00
IGL00730:Top2b APN 14 16,389,831 (GRCm38) missense probably damaging 1.00
IGL00917:Top2b APN 14 16,407,354 (GRCm38) missense probably benign 0.05
IGL01959:Top2b APN 14 16,422,695 (GRCm38) missense probably benign 0.19
IGL02019:Top2b APN 14 16,409,965 (GRCm38) missense probably benign 0.44
IGL02119:Top2b APN 14 16,406,733 (GRCm38) missense probably damaging 1.00
IGL02136:Top2b APN 14 16,407,103 (GRCm38) unclassified probably benign
IGL02148:Top2b APN 14 16,400,488 (GRCm38) missense probably damaging 1.00
IGL02496:Top2b APN 14 16,387,335 (GRCm38) missense probably benign
IGL02503:Top2b APN 14 16,407,163 (GRCm38) missense possibly damaging 0.92
IGL02672:Top2b APN 14 16,409,166 (GRCm38) unclassified probably benign
IGL02721:Top2b APN 14 16,409,236 (GRCm38) missense probably damaging 1.00
IGL02886:Top2b APN 14 16,365,688 (GRCm38) missense possibly damaging 0.73
IGL03252:Top2b APN 14 16,393,163 (GRCm38) missense possibly damaging 0.60
PIT4434001:Top2b UTSW 14 16,423,780 (GRCm38) critical splice donor site probably null
R0092:Top2b UTSW 14 16,409,263 (GRCm38) missense probably damaging 1.00
R0201:Top2b UTSW 14 16,383,174 (GRCm38) missense probably damaging 1.00
R0390:Top2b UTSW 14 16,418,442 (GRCm38) missense probably benign 0.00
R0394:Top2b UTSW 14 16,413,556 (GRCm38) splice site probably null
R1159:Top2b UTSW 14 16,430,329 (GRCm38) missense possibly damaging 0.81
R1424:Top2b UTSW 14 16,383,177 (GRCm38) missense probably damaging 1.00
R1519:Top2b UTSW 14 16,408,953 (GRCm38) splice site probably null
R1561:Top2b UTSW 14 16,398,993 (GRCm38) missense possibly damaging 0.80
R1713:Top2b UTSW 14 16,409,823 (GRCm38) missense probably benign 0.05
R1987:Top2b UTSW 14 16,398,916 (GRCm38) missense probably damaging 0.99
R2219:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2287:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2422:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3687:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3707:Top2b UTSW 14 16,388,447 (GRCm38) missense probably damaging 1.00
R3810:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3812:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3815:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3816:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3818:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4023:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4025:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4026:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4133:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4157:Top2b UTSW 14 16,384,491 (GRCm38) missense probably benign 0.42
R4179:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4180:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4300:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4376:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4377:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4492:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4549:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4550:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4581:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4582:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4628:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4630:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4667:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4668:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4669:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4698:Top2b UTSW 14 16,387,331 (GRCm38) nonsense probably null
R4769:Top2b UTSW 14 16,398,991 (GRCm38) missense probably damaging 1.00
R4809:Top2b UTSW 14 16,383,125 (GRCm38) missense probably benign 0.06
R4899:Top2b UTSW 14 16,387,313 (GRCm38) missense probably damaging 1.00
R5035:Top2b UTSW 14 16,409,966 (GRCm38) missense probably benign 0.01
R5621:Top2b UTSW 14 16,387,280 (GRCm38) missense probably damaging 1.00
R5631:Top2b UTSW 14 16,409,882 (GRCm38) missense probably damaging 1.00
R5685:Top2b UTSW 14 16,413,666 (GRCm38) missense probably damaging 1.00
R5732:Top2b UTSW 14 16,400,106 (GRCm38) missense possibly damaging 0.92
R5939:Top2b UTSW 14 16,422,786 (GRCm38) missense probably damaging 0.96
R6007:Top2b UTSW 14 16,423,779 (GRCm38) critical splice donor site probably null
R6087:Top2b UTSW 14 16,409,864 (GRCm38) missense probably benign 0.14
R6144:Top2b UTSW 14 16,423,740 (GRCm38) missense possibly damaging 0.48
R6196:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6218:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6229:Top2b UTSW 14 16,409,838 (GRCm38) missense probably damaging 1.00
R6249:Top2b UTSW 14 16,399,006 (GRCm38) missense probably damaging 1.00
R6337:Top2b UTSW 14 16,399,026 (GRCm38) missense possibly damaging 0.77
R6353:Top2b UTSW 14 16,416,671 (GRCm38) missense probably damaging 1.00
R6512:Top2b UTSW 14 16,409,854 (GRCm38) missense possibly damaging 0.94
R6573:Top2b UTSW 14 16,398,991 (GRCm38) missense probably damaging 1.00
R6614:Top2b UTSW 14 16,407,142 (GRCm38) nonsense probably null
R6844:Top2b UTSW 14 16,429,383 (GRCm38) missense possibly damaging 0.94
R6848:Top2b UTSW 14 16,409,958 (GRCm38) missense possibly damaging 0.89
R6871:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6895:Top2b UTSW 14 16,413,604 (GRCm38) missense probably benign 0.06
R7162:Top2b UTSW 14 16,416,653 (GRCm38) missense probably benign 0.00
R7247:Top2b UTSW 14 16,416,962 (GRCm38) missense probably benign 0.08
R7250:Top2b UTSW 14 16,420,411 (GRCm38) missense probably benign
R7359:Top2b UTSW 14 16,407,376 (GRCm38) missense probably null 1.00
R7365:Top2b UTSW 14 16,416,649 (GRCm38) missense probably benign 0.04
R7493:Top2b UTSW 14 16,416,605 (GRCm38) missense probably benign 0.00
R7528:Top2b UTSW 14 16,395,427 (GRCm38) nonsense probably null
R7562:Top2b UTSW 14 16,412,946 (GRCm38) missense probably benign 0.04
R7594:Top2b UTSW 14 16,428,587 (GRCm38) missense probably benign
R7670:Top2b UTSW 14 16,416,620 (GRCm38) missense possibly damaging 0.61
R7894:Top2b UTSW 14 16,413,081 (GRCm38) missense possibly damaging 0.68
R8031:Top2b UTSW 14 16,412,986 (GRCm38) missense probably damaging 0.98
R8150:Top2b UTSW 14 16,393,291 (GRCm38) missense probably damaging 0.99
R8214:Top2b UTSW 14 16,383,177 (GRCm38) missense probably damaging 1.00
R8299:Top2b UTSW 14 16,386,123 (GRCm38) missense possibly damaging 0.68
R8977:Top2b UTSW 14 16,393,239 (GRCm38) missense probably benign 0.36
R9562:Top2b UTSW 14 16,365,718 (GRCm38) missense probably benign 0.09
R9565:Top2b UTSW 14 16,365,718 (GRCm38) missense probably benign 0.09
R9798:Top2b UTSW 14 16,389,845 (GRCm38) missense probably damaging 1.00
X0028:Top2b UTSW 14 16,384,499 (GRCm38) nonsense probably null
Z1176:Top2b UTSW 14 16,395,434 (GRCm38) missense probably damaging 1.00
Z1177:Top2b UTSW 14 16,416,953 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTGTAGGAATGCTGGGAGC -3'
(R):5'- TAAAAGCCCTGGTGGAGATG -3'

Sequencing Primer
(F):5'- CAAGCCCGTTTCATTTTAGAGAAG -3'
(R):5'- AGGTATGCACTGTGAACTCC -3'
Posted On 2014-12-04